伴有广泛染色体重排的转移性多形性肺癌:尸检病例及文献综述。
Metastatic Pleomorphic Carcinoma of the Lung with Extensive Chromosomal Rearrangements: An Autopsy Case with a Literature Review.
发表日期:2024 Jul 04
作者:
Fukuko Matsumoto, Michiko Matsuzawa Adachi, Katsuyuki Yoshida, Takeshi Yamashita, Jun Shiihara, Takahiko Fukuchi, Haruka Morikawa, Masahiko Hiruta, Keisuke Tanno, Noriko Oyama-Manabe, Hisashi Oshiro, Hitoshi Sugawara
来源:
Cell Death & Disease
摘要:
我们在此报告一名 47 岁男性,患有进行性截瘫。影像学显示右上肺结节、双侧肾上腺大量转移、胸腰椎骨溶解和皮下结节。右侧臀部结节的活检显示为低分化转移癌,具有高程序性细胞死亡配体 1 表达和广泛的染色体重排。患者在开始派姆单抗治疗 10 天后死亡。尸检结果证实为肺多形性癌并伴有广泛转移。染色体重排的量化揭示了正常核型的跳跃突变,随后偏差程度进一步增加。
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.